ENU mutagenesis: Unpicking the immune system by Cornall, R

ENU mouse mutant with a hypomorphic mutation in DNA ligase IV by Nijnik, A

Subjects:

Aberrant mucin assembly in mice causes endoplasmic reticulum stress and spontaneous inflammation resembling ulcerative colitis. by Heazlewood, C, Cook, M, Eri, R, Price, G, Tauro, S, Taupin, D, Thornton, D, Png, C, Crockford, T, Cornall, R, Adams, R, Kato, M, Nelms, K, Hong, N, Florin, T, Goodnow, C, McGuckin, M

“…In this study we used random mutagenesis to produce two murine models of inflammatory bowel disease, characterised the basis and nature of the inflammation in these mice, and compared the pathology with human ulcerative colitis. …”

Aberrant mucin assembly in mice causes endoplasmic reticulum stress and spontaneous inflammation resembling ulcerative colitis by Heazlewood, C, Cook, M, Eri, R, Price, G, Tauro, S, Taupin, D, Thornton, D, Chin, W, Crockford, T, Cornall, R, Adams, R, Kato, M, Nelms, K, Hong, N, Florin, T, Goodnow, C, McGuckin, M

“…In this study we used random mutagenesis to produce two murine models of inflammatory bowel disease, characterised the basis and nature of the inflammation in these mice, and compared the pathology with human ulcerative colitis. …”

The role of DOCK8 in the maintenance of CD8+ T cell memory and invariant NKT cells by Crawford, G

“…<p>The use of genome wide ENU mutagenesis screening has uncovered vast numbers of novel genes involved in the control of the immune system. …”

Identification of a Steap3 endosomal targeting motif essential for normal iron metabolism. by Lambe, T, Simpson, R, Dawson, S, Bouriez-Jones, T, Crockford, T, Lepherd, M, Latunde-Dada, G, Robinson, H, Raja, K, Campagna, DR, Villarreal, G, Ellory, J, Goodnow, C, Fleming, MD, McKie, A, Cornall, R

“…Analysis of the Steap3(Y288H) mutant identifies a conserved motif required for targeting Steap3 to internal compartments and highlights how phenotypic screens linked to mutagenesis can identify new functional variants in erythropoiesis and ascribe function to previously unidentified motifs.…”

Themis is a member of a new metazoan gene family and is required for the completion of thymocyte positive selection. by Johnson, A, Aravind, L, Shulzhenko, N, Morgun, A, Choi, S, Crockford, T, Lambe, T, Domaschenz, H, Kucharska, E, Zheng, L, Vinuesa, C, Lenardo, M, Goodnow, C, Cornall, R, Schwartz, R

“…To address this issue, we used ethylnitrosourea mutagenesis to identify a previously unknown T lineage-specific gene, Themis, which is critical for the completion of positive selection. …”

DNA repair is limiting for haematopoietic stem cells during ageing. by Nijnik, A, Woodbine, L, Marchetti, C, Dawson, S, Lambe, T, Liu, C, Rodrigues, N, Crockford, T, Cabuy, E, Vindigni, A, Enver, T, Bell, J, Slijepcevic, P, Goodnow, C, Jeggo, P, Cornall, R

“…The Lig4(Y288C) mouse, identified by means of a mutagenesis screening programme, is a mouse model for human LIG4 syndrome, showing immunodeficiency and growth retardation. …”

Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome. by Bull, K, Mason, T, Rimmer, A, Crockford, T, Silver, K, Bouriez-Jones, T, Hough, T, Chaudhry, S, Roberts, I, Goodnow, C, Cornall, R

“…We now show how the combination of N-ethyl-N-nitrosourea mutagenesis and next-generation sequencing could be used to identify the range of mutations affecting these pathways. …”

Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations by Bull, K, Rimmer, A, Siggs, O, Miosge, L, Roots, C, Enders, A, Bertram, E, Crockford, T, Whittle, B, Potter, P, Simon, M, Mallon, A, Brown, S, Beutler, B, Goodnow, C, Lunter, G, Cornall, R

“…The introduction of this approach will accelerate the discovery of causal variants, permit broader and more informative lethal screens to be used, reduce animal costs, and herald a new era for ENU mutagenesis.…”

An essential role for the Zn2+ transporter ZIP7 in B cell development by Anzilotti, C, Swan, D, Boisson, B, Deobagkar-Lele, M, Oliveira, C, Chabosseau, P, Englehardt, K, Xu, X, Chen, R, Alvarez, L, Berlinguer-Palmini, R, Bull, K, Cawthorne, E, Cribbs, A, Crockford, T, Dang, T, Fearn, A, Fenech, E, de Jong, S, Lagerholm, B, Ma, C, Sims, D, van den Berg, B, Xu, Y, Cant, A, Kleiner, G, Leahy, T, de la Morena, M, Puck, J, Shapiro, R, van der Burg, M, Chapman, J, Christianson, J, Davies, B, McGrath, J, Przyborski, S, Santibanez Koref, M, Tangye, S, Werner, A, Rutter, G, Padilla-Parra, S, Casanova, J, Cornall, R, Conley, M, Hambleton, S

“…The immunodeficiency results from hypomorphic mutations of SLC39A7, which encodes the endoplasmic reticulum-to-cytoplasm zinc transporter ZIP7. Using CRISPR-Cas9 mutagenesis we have precisely modeled ZIP7 deficiency in mice. …”